Clinical trials: Congenital Hearing Loss
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Congenital Hypothyroidism, Hearing Loss
The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism
Congenital hypothyroidism (CH) occurs in 1:4000 live births. Neurological disturbances like speech delay, motor delay and lower IQ were reported in children with CH.
- Trial name
- NCT01223638
- Testing
- Audiometry
- Where
- Israel
- Volunteers
- healthy volunteers welcome
- Sponsor
- HaEmek Medical Center, Israel
Usher Syndrome, Retinitis Pigmentosa
Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome
OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome. II.
- Trial name
- NCT00004345
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Neurocognitive Disorders, Post Operative Delirium
Safe Brain Initiative, Operationalizing Precision Anaesthesia
Perioperatively, patients experience an unnecessarily high level of side effects associated with their treatment. These side effects include nausea, severe pain, anxiety, and stress.
- Conditions
- Neurocognitive Disorders, Post Operative Delirium, Pain, Nausea
- Trial name
- SBI (NCT05765162)
- Testing
- Patient reported ourcomes
- Where
- Denmark
- Volunteers
- 15,000 people, healthy volunteers welcome
- Sponsor
- University of Southern Denmark
Hearing Loss
AUditive Direct In-utero Observation (AUDIO): Prenatal Testing of Congenital Hypoacusis
The objective of this randomized controlled study was to demonstrate whether fetal hearing can be assessed in utero.
- Trial name
- AUDIO (NCT04622059)
- Testing
- acoustic stimulation
- Where
- Italy
- Volunteers
- 210 people, healthy volunteers welcome
- Sponsor
- Elena Contro
Cytomegalovirus Congenital, Hearing Loss
Epidemiology of Congenital Cytomegalovirus in a High HIV Prevalence Setting, South Africa
The aim of this project is to determine the epidemiology of congenital cytomegalovirus (CMV) infection and incidence of subsequent permanent neurological sequelae in a high HIV prevalent setting in Soweto, Johannesburg.
- Conditions
- Cytomegalovirus Congenital, Hearing Loss, Neurodevelopmental Disorders, Immunogenicity
- Trial name
- NCT03722615
- Where
- South Africa
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Witwatersrand, South Africa
Metabolism, Inborn Errors, Hearing Loss
North Carolina Newborn Exome Sequencing for Universal Screening
The NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making.
- Conditions
- Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
- Trial name
- NC_NEXUS (NCT02826694)
- Testing
- Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
- Where
- United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Osteogenesis Imperfecta
Effects of Bisphosphonates on OI-Related Hearing Loss
Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in…
- Trial name
- NCT04152551
- Testing
- Risedronate Oral Tablet
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital for Special Surgery, New York
Retinitis Pigmentosa, Cone Dystrophy
Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
- Conditions
- Retinitis Pigmentosa, Cone Dystrophy, Usher Syndromes, Retina; Dystrophy
- Trial name
- NCT03990727
- Testing
- Retina Analysis-mosaic, Autofluorescence, OCT- 1 micra
- Where
- Mexico
- Volunteers
- 17,000 people, healthy volunteers welcome
- Sponsor
- MejoraVisionMD
Type 1 Diabetes, Diabetes Insipidus
Tracking Neurodegeneration in Early Wolfram Syndrome
The goal of this study is to determine the pattern of early neurodegenerative changes in WFS (Wolfram Syndrome). The investigator will perform cross-sectional and longitudinal assessments of youth with WFS, targeting sensitive…
- Conditions
- Type 1 Diabetes, Diabetes Insipidus, Diabetes Mellitus, Wolfram Syndrome
- Trial name
- TRACK (NCT02455414)
- Where
- United States
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Retinal Degeneration, Retinitis Pigmentosa
Molecular Genetics of Retinal Degenerations
This multinational study will investigate the inheritance of genetic retinal degeneration in families of different nationalities and ethnic backgrounds in order to identify the genes that, when altered, cause retinal…
- Trial name
- NCT00231010
- Where
- 6 sites in United States, China and 2 more
- Volunteers
- 3,549 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Language Impairment, Autism
Pilot Evaluation of the Developed Syntactic-Semantic Visual Configuration Intervention for Children With Language Impairment
This study will pilot a newly developed Syntactic-Semantic Visual Configuration Intervention (SSVCI) designed to help Urdu-speaking children with language impairment improve their ability to understand and produce phrases and…
- Conditions
- Language Impairment, Autism, Hearing Impaired Children, Down Syndrome
- Trial name
- NCT07786545
- Testing
- Syntactic-Semantic Visual Configuration Intervention (SSVCI)
- Where
- Pakistan
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Congenital Cytomegalovirus, Cytomegalovirus Infections
Protein Biomarkers and Host RNA Expression Profiles in Congenital Cytomegalovirus Infection
This study seeks to identify and test host protein biomarkers and RNA expression profiles in dried blood spot samples as novel diagnostic markers of congenital cytomegalovirus sequelae and to improve the understanding of the…
- Conditions
- Congenital Cytomegalovirus, Cytomegalovirus Infections, Neonatal Infection, Sensorineural Hearing Loss
- Trial name
- NCT07635368
- Where
- 2 sites in Denmark
- Volunteers
- 630 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Hearing Loss, Genetic Disease
Auditory Restoration and Outcomes After Gene Therapy and Cochlear Implantation: a PRospective Cohort Analysis (AURORA)
This cohort study aims to explore the trends and differences in multidimensional perceptual levels of patients after cochlear implants or gene therapy, as well as to comprehensively assess the efficacy of gene therapy for…
- Conditions
- Hearing Loss, Genetic Disease, Speech Perception
- Trial name
- NCT06237790
- Where
- 6 sites in China
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Eye & ENT Hospital of Fudan University
Sensorineural Hearing Loss, Long QT Syndrome
Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
The purpose of this study is to determine the true incidence of long QT (LQT) amongst a large cohort of subjects diagnosed with unilateral (right/left) or bilateral sensorineural hearing loss.
- Trial name
- NCT02082431
- Where
- 12 sites in United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Pediatrix
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Congenital Hearing Loss
Promoting Early Diagnosis of Congenital Hearing Loss With Patient Navigators
Hearing loss is the most common sensory congenital disorder and this condition is diagnosable and treatable. Children that are born with hearing loss have to undergo several hearing tests to diagnose the condition and many…
- Trial name
- NCT01917747
- Testing
- Patient Navigator, Standard scheduling and follow-up
- Where
- 2 sites in United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- Matthew Bush, MD
Cochlear Implants
Pitch Perception and Memory: Deficits and Training
Pitch perception and memory are central in auditory cognition, in particular for sound source segregation and recognition, speech prosody and music processing.
- Trial name
- Pitch_Train (NCT03707691)
- Testing
- Listening tests. Pitch training protocol, visuo-spatial training protocol, EEG/MEG/MRI recordings.
- Where
- France
- Volunteers
- 960 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Rare Fetal Genetic Diseases, Congenital Malformation
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are: It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues…
- Trial name
- FOETEPISIGN (NCT06475651)
- Testing
- Methylation analysis
- Where
- France
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystic Fibrosis, Sensorineural Hearing Loss
Evaluation of the High Frequency Digit Triplet Test in Cystic Fibrosis
The purpose of this study is to find out whether the High Frequency Digit Triplet test can be used to screen patients with cystic fibrosis for hearing loss in conditions of health and pulmonary exacerbation.
- Trial name
- 3D-CF (NCT02252601)
- Testing
- HFDT test, Pure tone Audiogram
- Where
- 3 sites in United Kingdom
- Volunteers
- 388 people, healthy volunteers welcome
- Sponsor
- University of Nottingham